Natural history of rhizomelic chondrodysplasia punctata
Article first published online: 27 JAN 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 118A, Issue 4, pages 332–342, 1 May 2003
How to Cite
White, A. L., Modaff, P., Holland-Morris, F. and Pauli, R. M. (2003), Natural history of rhizomelic chondrodysplasia punctata. Am. J. Med. Genet., 118A: 332–342. doi: 10.1002/ajmg.a.20009
- Issue published online: 4 APR 2003
- Article first published online: 27 JAN 2003
- Manuscript Accepted: 30 SEP 2002
- Manuscript Received: 7 JUN 2002
- bone dysplasia;
- peroxisomal disorders;
- anticipatory care;
- guidelines for care
Rhizomelic chondrodysplasia punctata (RCP) is a rare autosomal recessive disorder with many associated medical complications. Prior to this study, natural history information about RCP was limited and based on experiences with small populations of affected individuals. We delineate the natural history of RCP through systematic analysis of 35 previously unreported individuals (as well as review of 62 literature cases with respect to survival and cause of death). Survival, growth, and developmental expectations and medical needs are summarized based upon experience with this population. Survival is greater among this population than previously reported, with 90% surviving up to 1 year and 50% surviving up to 6 years. Cause of death is most often respiratory problem. All infants with RCP have joint contractures, bilateral cataracts, and severe growth and psychomotor delays. Recommendations for health supervision of children with RCP and for parental counseling are presented. © 2003 Wiley-Liss, Inc.